MCID: MYP007
MIFTS: 28

Myopathy Due to Cpt Ii Deficiency malady

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Myopathy Due to Cpt Ii Deficiency

About this section

Aliases & Descriptions for Myopathy Due to Cpt Ii Deficiency:

Name: Myopathy Due to Cpt Ii Deficiency 50 12
Carnitine Palmitoyltransferase 2 Deficiency Late-Onset 68 25
Carnitine Palmitoyl Transferase Deficiency Type 2, Adult-Onset Form 52
Carnitine Palmitoyl Transferase Deficiency Type 2, Myopathic Form 52
Carnitine Palmitoyl Transferase Ii Deficiency, Adult-Onset Form 52
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form 52
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset 50
Carnitine Palmitoyltransferase Ii Deficiency 68
 
Cptii, Adult-Onset Form 52
Cpt2, Adult-Onset Form 52
Cptii, Myopathic Form 52
Cpt2, Myopathic Form 52
Cpt-Ii Deficiency 68
Cpt2 Deficiency 68
Cpt2d 68

Characteristics:

Orphanet epidemiological data:

52
carnitine palmitoyl transferase deficiency type 2, adult-onset form:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy

HPO:

62
myopathy due to cpt ii deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 255110
Orphanet52 ORPHA228302
ICD10 via Orphanet29 E71.3
MedGen35 C1833508

Summaries for Myopathy Due to Cpt Ii Deficiency

About this section
UniProtKB/Swiss-Prot:68 Carnitine palmitoyltransferase 2 deficiency late-onset: Autosomal recessive disorder characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are triggered by prolonged exercise, fasting or viral infection and patients are usually young adults. In addition to this classical, late-onset, muscular type, a hepatic or hepatocardiomuscular form has been reported in infants. Clinical pictures in these children or neonates include hypoketotic hypoglycemia, liver dysfunction, cardiomyopathy and sudden death.

MalaCards based summary: Myopathy Due to Cpt Ii Deficiency, also known as carnitine palmitoyltransferase 2 deficiency late-onset, is related to cpt ii deficiency, lethal neonatal and carnitine palmitoyltransferase ii deficiency, and has symptoms including muscle weakness, myopathy and myalgia. An important gene associated with Myopathy Due to Cpt Ii Deficiency is CPT2 (Carnitine Palmitoyltransferase 2). Affiliated tissues include liver.

OMIM:50 Carnitine palmitoyltransferase II deficiency is the most common inherited disorder of mitochondrial long-chain fatty... (255110) more...

Related Diseases for Myopathy Due to Cpt Ii Deficiency

About this section

Diseases related to Myopathy Due to Cpt Ii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cpt ii deficiency, lethal neonatal12.3
2carnitine palmitoyltransferase ii deficiency11.6

Symptoms for Myopathy Due to Cpt Ii Deficiency

About this section

Symptoms by clinical synopsis from OMIM:

255110

Clinical features from OMIM:

255110

Symptoms:

 52 (show all 7)
  • renal insufficiency
  • muscle weakness
  • abnormality of the musculature
  • myopathy
  • elevated serum creatine phosphokinase
  • myalgia
  • fatigue

HPO human phenotypes related to Myopathy Due to Cpt Ii Deficiency:

(show all 11)
id Description Frequency HPO Source Accession
1 muscle weakness hallmark (90%) HP:0001324
2 myopathy hallmark (90%) HP:0003198
3 myalgia hallmark (90%) HP:0003326
4 renal insufficiency typical (50%) HP:0000083
5 renal insufficiency HP:0000083
6 muscle weakness HP:0001324
7 myoglobinuria HP:0002913
8 rhabdomyolysis HP:0003201
9 myalgia HP:0003326
10 muscle cramps HP:0003394
11 muscle stiffness HP:0003552

UMLS symptoms related to Myopathy Due to Cpt Ii Deficiency:


muscle cramp, muscular stiffness, myalgia

Drugs & Therapeutics for Myopathy Due to Cpt Ii Deficiency

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myopathy Due to Cpt Ii Deficiency

Genetic Tests for Myopathy Due to Cpt Ii Deficiency

About this section

Genetic tests related to Myopathy Due to Cpt Ii Deficiency:

id Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset25

Anatomical Context for Myopathy Due to Cpt Ii Deficiency

About this section

MalaCards organs/tissues related to Myopathy Due to Cpt Ii Deficiency:

34
Liver

Animal Models for Myopathy Due to Cpt Ii Deficiency or affiliated genes

About this section

Publications for Myopathy Due to Cpt Ii Deficiency

About this section

Variations for Myopathy Due to Cpt Ii Deficiency

About this section

UniProtKB/Swiss-Prot genetic disease variations for Myopathy Due to Cpt Ii Deficiency:

68 (show all 18)
id Symbol AA change Variation ID SNP ID
1CPT2p.Pro50HisVAR_001391rs28936674
2CPT2p.Ser113LeuVAR_001392rs74315294
3CPT2p.Glu174LysVAR_001393rs28936674
4CPT2p.Phe383TyrVAR_001396rs28936673
5CPT2p.Asp553AsnVAR_001397rs28936376
6CPT2p.Met214ThrVAR_007966rs515726174
7CPT2p.Pro227LeuVAR_007967rs74315298
8CPT2p.Phe448LeuVAR_007968rs74315297
9CPT2p.Tyr479PheVAR_007969rs749895856
10CPT2p.Arg503CysVAR_007970rs74315296
11CPT2p.Gly549AspVAR_007971rs186044004
12CPT2p.Arg151GlnVAR_020540rs515726177
13CPT2p.Tyr210AspVAR_020541
14CPT2p.Arg296GlnVAR_020542rs764849762
15CPT2p.Gln550ArgVAR_020543
16CPT2p.Gly600ArgVAR_020544
17CPT2p.Pro604SerVAR_020545
18CPT2p.Asp213GlyVAR_037976rs74315300

Clinvar genetic disease variations for Myopathy Due to Cpt Ii Deficiency:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1CPT2NM_000098.2(CPT2): c.886C> T (p.Arg296Ter)single nucleotide variantLikely pathogenic, Pathogenicrs727503887GRCh37Chr 1, 53676232: 53676232
2CPT2NM_000098.2(CPT2): c.1342T> C (p.Phe448Leu)single nucleotide variantPathogenicrs74315297GRCh37Chr 1, 53676688: 53676688
3CPT2NM_000098.2(CPT2): c.1891C> T (p.Arg631Cys)single nucleotide variantPathogenicrs74315293GRCh37Chr 1, 53679181: 53679181
4CPT2NM_000098.2(CPT2): c.338C> T (p.Ser113Leu)single nucleotide variantPathogenicrs74315294GRCh37Chr 1, 53668099: 53668099
5CPT2NM_000098.2(CPT2): c.149C> A (p.Pro50His)single nucleotide variantPathogenicrs28936375GRCh37Chr 1, 53662764: 53662764
6CPT2NM_000098.2(CPT2): c.1657G> A (p.Asp553Asn)single nucleotide variantPathogenicrs28936376GRCh37Chr 1, 53678947: 53678947
7CPT2NM_000098.2(CPT2): c.1883A> C (p.Tyr628Ser)single nucleotide variantPathogenicrs28936673GRCh37Chr 1, 53679173: 53679173
8CPT2NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr)single nucleotide variantPathogenicrs74315295GRCh37Chr 1, 53676494: 53676494
9CPT2NM_000098.2(CPT2): c.1342T> C (p.Phe448Leu)single nucleotide variantPathogenicrs74315297GRCh37Chr 1, 53676688: 53676688
10CPT2NM_000098.2(CPT2): c.1360G> T (p.Glu454Ter)single nucleotide variantPathogenicrs74315299GRCh37Chr 1, 53676706: 53676706
11CPT2NM_000098.2(CPT2): c.638A> G (p.Asp213Gly)single nucleotide variantPathogenicrs74315300GRCh37Chr 1, 53675984: 53675984
12CPT2NM_000098.2(CPT2): c.1239_1240delGA (p.Lys414Thrfs)deletionPathogenicrs397509431GRCh37Chr 1, 53676585: 53676586

Expression for genes affiliated with Myopathy Due to Cpt Ii Deficiency

About this section
Search GEO for disease gene expression data for Myopathy Due to Cpt Ii Deficiency.

Pathways for genes affiliated with Myopathy Due to Cpt Ii Deficiency

About this section

GO Terms for genes affiliated with Myopathy Due to Cpt Ii Deficiency

About this section

Sources for Myopathy Due to Cpt Ii Deficiency

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet